KLF10 missense variants in ExAC


The table below lists the KLF10 missense variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord. Variant (CDS) Variant (Protein) Variant Type ExAC frequencyPopulations*
1. 103663814 c.746C>T p.S249F missense 0.01345894
2. 103663994 c.566C>G p.T189S missense 0.00221560
3. 103664003 c.557G>T p.R186I missense 0.00221560
4. 103667800 c.30G>C p.Q10H missense 0.00118127
5. 103663614 c.946G>A p.A316T missense 0.00080044
6. 103663886 c.674G>A p.S225N missense 0.00060953
7. 103663473 c.1087T>G p.S363A missense 0.00022071
8. 103664226 c.334C>T p.P112S missense 0.00021916
9. 103663999 c.561A>T p.R187S missense 0.00015649
10. 103664484 c.178G>T p.V60F missense 0.00014830
11. 103663755 c.805C>T p.P269S missense 0.00014043
12. 103663953 c.607G>T p.A203S missense 0.00009060
13. 103664582 c.80T>C p.M27T missense 0.00008244
14. 103663497 c.1063G>T p.A355S missense 0.00007829
15. 103664166 c.394G>A p.A132T missense 0.00007542
16. 103664124 c.436A>G p.K146E missense 0.00007488
17. 103663517 c.1043C>T p.P348L missense 0.00006066
18. 103663391 c.1169C>T p.T390M missense 0.00005425
19. 103663619 c.941A>G p.K314R missense 0.00005143
20. 103664174 c.386A>T p.H129L missense 0.00005031
21. 103664488 c.174A>C p.K58N missense 0.00004943
22. 103663911 c.649G>A p.V217M missense 0.00004942
23. 103663914 c.646A>G p.T216A missense 0.00004942
24. 103664223 c.337G>C p.A113P missense 0.00004214
25. 103663863 c.697G>A p.V233M missense 0.00004119
26. 103663992 c.568C>A p.H190N missense 0.00004118
27. 103663565 c.995C>T p.P332L missense 0.00003473
28. 103663649 c.911C>A p.P304H missense 0.00003361
29. 103664144 c.416A>G p.K139R missense 0.00003344
30. 103663692 c.868G>A p.V290I missense 0.00003319
31. 103662391 c.1412C>T p.A471V missense 0.00003297
32. 103663904 c.656A>T p.D219V missense 0.00003295
33. 103663587 c.973G>A p.V325I missense 0.00002602
34. 103663680 c.880C>T p.P294S missense 0.00002492
35. 103664426 c.236C>T p.P79L missense 0.00002477
36. 103664525 c.137T>C p.M46T missense 0.00002471
37. 103663901 c.659T>C p.V220A missense 0.00002471
38. 103663950 c.610G>A p.A204T missense 0.00002471
39. 103663566 c.994C>G p.P332A missense 0.00001736
40. 103664249 c.311C>T p.S104F missense 0.00001694
41. 103664231 c.329T>A p.M110K missense 0.00001688
42. 103664183 c.377C>G p.A126G missense 0.00001678
43. 103664168 c.392C>A p.A131D missense 0.00001677
44. 103664151 c.409G>A p.E137K missense 0.00001674
45. 103664140 c.420C>A p.S140R missense 0.00001671
46. 103664609 c.53T>C p.M18T missense 0.00001661
47. 103663682 c.878C>T p.T293I missense 0.00001661
48. 103663686 c.874A>G p.S292G missense 0.00001661
49. 103663701 c.859A>T p.T287S missense 0.00001658
50. 103664105 c.455C>T p.A152V missense 0.00001657
51. 103663707 c.853G>A p.V285I missense 0.00001657
52. 103664456 c.206C>G p.S69C missense 0.00001648
53. 103663823 c.737C>T p.A246V missense 0.00001648
54. 103664039 c.521C>T p.A174V missense 0.00001648
55. 103664054 c.506C>G p.T169S missense 0.00001648
56. 103663925 c.635G>A p.C212Y missense 0.00001647
57. 103663968 c.592A>G p.K198E missense 0.00001647
58. 103663899 c.661G>T p.D221Y missense 0.00001647
59. 103663400 c.1160A>C p.K387T missense 0.00000904
60. 103663431 c.1129G>A p.G377S missense 0.00000901
61. 103663439 c.1121C>T p.P374L missense 0.00000899
62. 103663440 c.1120C>T p.P374S missense 0.00000898
63. 103663457 c.1103G>A p.S368N missense 0.00000892
64. 103663470 c.1090T>A p.S364T missense 0.00000884
65. 103663484 c.1076C>A p.P359H missense 0.00000876
66. 103663553 c.1007C>T p.P336L missense 0.00000868
67. 103663556 c.1004G>T p.S335I missense 0.00000868
68. 103663572 c.988A>G p.K330E missense 0.00000868
69. 103663556 c.1004G>C p.S335T missense 0.00000868
70. 103663547 c.1013G>A p.G338D missense 0.00000868
71. 103663560 c.1000G>A p.V334M missense 0.00000868
72. 103663514 c.1046G>A p.G349E missense 0.00000867
73. 103663535 c.1025C>T p.S342F missense 0.00000866
74. 103664273 c.287A>G p.Y96C missense 0.00000854
75. 103663637 c.923T>G p.M308R missense 0.00000848
76. 103664253 c.307C>T p.P103S missense 0.00000848
77. 103664230 c.330G>A p.M110I missense 0.00000844
78. 103664228 c.332C>T p.A111V missense 0.00000843
79. 103664222 c.338C>T p.A113V missense 0.00000842
80. 103663646 c.914T>C p.V305A missense 0.00000842
81. 103664211 c.349G>A p.V117I missense 0.00000841
82. 103663650 c.910C>G p.P304A missense 0.00000840
83. 103664183 c.377C>T p.A126V missense 0.00000839
84. 103664181 c.379A>C p.K127Q missense 0.00000839
85. 103664177 c.383C>T p.P128L missense 0.00000838
86. 103664157 c.403A>G p.K135E missense 0.00000838
87. 103667817 c.13G>C p.G5R missense 0.00000837
88. 103667818 c.12C>A p.F4L missense 0.00000837
89. 103664400 c.262C>T p.P88S missense 0.00000836
90. 103663659 c.901G>A p.V301I missense 0.00000836
91. 103664136 c.424G>A p.V142I missense 0.00000835
92. 103667811 c.19T>G p.S7A missense 0.00000835
93. 103663664 c.896C>A p.P299Q missense 0.00000834
94. 103664129 c.431C>T p.A144V missense 0.00000833
95. 103667805 c.25C>A p.Q9K missense 0.00000833
96. 103667799 c.31A>C p.T11P missense 0.00000832
97. 103667801 c.29A>G p.Q10R missense 0.00000832
98. 103664611 c.51A>T p.E17D missense 0.00000832
99. 103663672 c.888C>A p.S296R missense 0.00000832
100. 103667795 c.35C>A p.A12E missense 0.00000831
101. 103664408 c.254A>C p.H85P missense 0.00000831
102. 103664608 c.54G>A p.M18I missense 0.00000830
103. 103663700 c.860C>G p.T287R missense 0.00000829
104. 103664109 c.451C>G p.Q151E missense 0.00000829
105. 103664412 c.250T>G p.F84V missense 0.00000829
106. 103663713 c.847A>C p.N283H missense 0.00000828
107. 103664604 c.58T>C p.S20P missense 0.00000828
108. 103664594 c.68C>T p.P23L missense 0.00000826
109. 103664073 c.487C>A p.Q163K missense 0.00000825
110. 103664075 c.485C>T p.A162V missense 0.00000825
111. 103664064 c.496A>G p.N166D missense 0.00000825
112. 103662409 c.1394G>A p.S465N missense 0.00000824
113. 103664559 c.103G>A p.E35K missense 0.00000824
114. 103664442 c.220G>A p.E74K missense 0.00000824
115. 103664003 c.557G>A p.R186K missense 0.00000824
116. 103662493 c.1310G>A p.R437Q missense 0.00000824
117. 103663940 c.620C>T p.P207L missense 0.00000824
118. 103663875 c.685T>C p.Y229H missense 0.00000824
119. 103664054 c.506C>A p.T169N missense 0.00000824
120. 103664027 c.533T>C p.L178P missense 0.00000824
121. 103662455 c.1348C>T p.R450C missense 0.00000824
122. 103663992 c.568C>T p.H190Y missense 0.00000824
123. 103663847 c.713C>T p.T238M missense 0.00000824
124. 103663818 c.742G>C p.V248L missense 0.00000824
125. 103664009 c.551C>A p.S184Y missense 0.00000824
126. 103664574 c.88T>C p.W30R missense 0.00000824
127. 103664526 c.136A>G p.M46V missense 0.00000824
128. 103662391 c.1412C>G p.A471G missense 0.00000824
129. 103664469 c.193G>A p.V65I missense 0.00000824
130. 103664061 c.499C>T p.H167Y missense 0.00000824
131. 103663994 c.566C>T p.T189I missense 0.00000824
132. 103662496 c.1307G>A p.R436Q missense 0.00000824
133. 103663958 c.602C>T p.P201L missense 0.00000824
134. 103662457 c.1346G>A p.R449Q missense 0.00000824
135. 103662504 c.1299G>A p.M433I missense 0.00000824
136. 103664015 c.545A>G p.N182S missense 0.00000824
137. 103664576 c.86C>A p.S29Y missense 0.00000824
138. 103664538 c.124G>A p.V42I missense 0.00000824
139. 103662404 c.1399C>A p.L467I missense 0.00000824
140. 103663870 c.690C>G p.D230E missense 0.00000824
141. 103664050 c.510C>G p.C170W missense 0.00000824
142. 103662568 c.1235G>A p.R412H missense 0.00000824
143. 103662458 c.1345C>G p.R449G missense 0.00000824
144. 103664506 c.156G>C p.W52C missense 0.00000824
145. 103663886 c.674G>C p.S225T missense 0.00000824
146. 103662389 c.1414C>A p.L472I missense 0.00000824
147. 103663826 c.734C>T p.P245L missense 0.00000824
148. 103664021 c.539A>C p.Y180S missense 0.00000824

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

Genomic coordinates refer to the GRCh37 release of the human genome.